| Researchers have developed the program, capable to distinguish genetic syndromes. They hope, that the computer, analyzing features of the patient, the diagnosis will help doctors to make with a small operational experience.
Using photos of patients, the computer have trained to distinguish such rare pathologies, as syndrome Корнелии де Lang, a syndrome of a fragile chromosome and Williams-Bojrena syndrome.
The new program represents the person in the form of the scheme from 48 points. Comparing position of these points and distance between them with the information from a database, the computer distinguishes pathologies. The first technologies made the true diagnosis in 60 % of cases. When corrective amendments have been introduced and the program began to pay more attention to eyes, a nose, a mouth and a chin, productivity has raised to 76 %.
The previous works by definition of syndromes on features have appeared less successful as the insufficient attention to an estimation of parametres of the person in aggregate was paid. The patients, suffering syndrome Корнелии де Lang, also known as Amsterdam карликовость, possess similar lines. This slow development, low growth, excessively dense hair on a head, defects of the top finitenesses and heart. At them also the thin eyebrows converging on nose bridge, long eyelashes and a short snub nose. This disease by dangerously heavy defects of internal bodies and considerable infringement of intelligence. At Williams-Bojrena illness there is characteristic enough appearance which has received the name «the person эльфа»: a convex forehead, утолщенная a fold over upper eyelids, a squint, loose-hanging cheeks, the short nose, a little turned out nostrils, thick lips, the big mouth, a small chin, the big auricles, but correctly located. Except these signs the high sky, a dryish skin, flabbiness of muscles with a muscular hypotonia, hypermobility of joints, плоскостопие and other infringements of a skeleton are marked also. At a syndrome of a fragile X-chromosome problems with training and behaviour of the patient are marked. Patients, as a rule - boys, have unusually high forehead, disproportionate features, the big jaws, long ears acting forward and big яички. The factor of intellectual development in such children usually appears is lowered several times, and they often happen inclined to strong fits of anger. All these characteristics become appreciable with the years and practically необнаружимы in infancy. The charitable organisations express hope, that the new technology will allow to distinguish illnesses much earlier. The representative of Cornelia de Lange Foundation has declared, that the organisation welcomes the new program and hopes to learn, how much it is applicable in practice. «We are interested in any workings out allowing early to make the exact diagnosis, and we will be glad, if this technology works. We with interest expect data on how this program will diagnose easy forms of pathologies», - he has informed. Doctor Dagmar Vichorek (Dagmar Wieczorek) from Institute of genetics of the person of university clinic of the city of Essen (Essen), Germany, has processed by means of this program of 55 photos of people with various pathologies. The exact diagnosis has been put in 76 % of cases. « Exclusive skill is necessary to allocate signs of disease from features which influence environment. Our purpose - to help insufficiently skilled doctors to make the exact diagnosis », - she has informed.
source: (Mednovosti.Ru) |
